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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-177404231-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177404231&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177404231,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000505.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Thr328Arg",
"transcript": "NM_000505.4",
"protein_id": "NP_000496.2",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 615,
"cds_start": 983,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": "ENST00000253496.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000505.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Thr328Arg",
"transcript": "ENST00000253496.4",
"protein_id": "ENSP00000253496.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 615,
"cds_start": 983,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": "NM_000505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253496.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.1058C>G",
"hgvs_p": "p.Thr353Arg",
"transcript": "ENST00000898128.1",
"protein_id": "ENSP00000568187.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 640,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898128.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.971C>G",
"hgvs_p": "p.Thr324Arg",
"transcript": "ENST00000898127.1",
"protein_id": "ENSP00000568186.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 611,
"cds_start": 971,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898127.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.959C>G",
"hgvs_p": "p.Thr320Arg",
"transcript": "ENST00000898126.1",
"protein_id": "ENSP00000568185.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 607,
"cds_start": 959,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898126.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Thr314Arg",
"transcript": "ENST00000898123.1",
"protein_id": "ENSP00000568182.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 601,
"cds_start": 941,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898123.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Thr328Arg",
"transcript": "ENST00000696201.1",
"protein_id": "ENSP00000512482.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 578,
"cds_start": 983,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696201.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Thr284Arg",
"transcript": "ENST00000898122.1",
"protein_id": "ENSP00000568181.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 571,
"cds_start": 851,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898122.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.812C>G",
"hgvs_p": "p.Thr271Arg",
"transcript": "ENST00000898125.1",
"protein_id": "ENSP00000568184.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 558,
"cds_start": 812,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898125.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.647C>G",
"hgvs_p": "p.Thr216Arg",
"transcript": "XM_011534462.3",
"protein_id": "XP_011532764.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 503,
"cds_start": 647,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534462.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.635-141C>G",
"hgvs_p": null,
"transcript": "ENST00000898124.1",
"protein_id": "ENSP00000568183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898124.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "c.530-141C>G",
"hgvs_p": null,
"transcript": "ENST00000898129.1",
"protein_id": "ENSP00000568188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898129.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRK6",
"gene_hgnc_id": 4545,
"hgvs_c": "c.-45+705G>C",
"hgvs_p": null,
"transcript": "ENST00000502598.5",
"protein_id": "ENSP00000422873.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502598.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.242C>G",
"hgvs_p": null,
"transcript": "ENST00000502854.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502854.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.355C>G",
"hgvs_p": null,
"transcript": "ENST00000503736.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.242C>G",
"hgvs_p": null,
"transcript": "ENST00000510358.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.*649C>G",
"hgvs_p": null,
"transcript": "ENST00000696192.1",
"protein_id": "ENSP00000512476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.*1353C>G",
"hgvs_p": null,
"transcript": "ENST00000696193.1",
"protein_id": "ENSP00000512477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696193.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.*573C>G",
"hgvs_p": null,
"transcript": "ENST00000696194.1",
"protein_id": "ENSP00000512478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.3786C>G",
"hgvs_p": null,
"transcript": "ENST00000696195.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.1086C>G",
"hgvs_p": null,
"transcript": "ENST00000696200.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.*649C>G",
"hgvs_p": null,
"transcript": "ENST00000696192.1",
"protein_id": "ENSP00000512476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "F12",
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"hgvs_c": "n.*1353C>G",
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"transcript": "ENST00000696193.1",
"protein_id": "ENSP00000512477.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696193.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"hgvs_c": "n.*573C>G",
"hgvs_p": null,
"transcript": "ENST00000696194.1",
"protein_id": "ENSP00000512478.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRK6",
"gene_hgnc_id": 4545,
"hgvs_c": "c.-371G>C",
"hgvs_p": null,
"transcript": "ENST00000506296.5",
"protein_id": "ENSP00000421055.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506296.5"
}
],
"gene_symbol": "F12",
"gene_hgnc_id": 3530,
"dbsnp": "rs118204456",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9450453519821167,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.509,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1037,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.608,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000505.4",
"gene_symbol": "F12",
"hgnc_id": 3530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.983C>G",
"hgvs_p": "p.Thr328Arg"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000502598.5",
"gene_symbol": "GRK6",
"hgnc_id": 4545,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-45+705G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Angioedema,Factor XII deficiency disease,Hereditary angioedema type 3,Hyperbilirubinemia,Hypertensive disorder,Urticaria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hereditary angioedema type 3|Angioedema;Hyperbilirubinemia;Urticaria;Hypertensive disorder|Factor XII deficiency disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}